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February 27, 2009

Early this morning, I called Dr. Samson-Fang's office again. When they told me she was out for the day and would get my message on Monday, I decided to emphasize the importance my message. The receptionist finally agreed to page Dr. Samson-Fang, but left me with the impression that she doubted my concern. Dr. Samson-Fang, however, never disappoints. She called me back immediately after getting paged.

We started by discussing Bertrand's progress in therapy. She will be mailing me the Shriners' application on Monday, so we can start Bertrand on physical therapy there in addition to his home sessions through the Utah's state early intervention program.

Dr. Samson-Fang then mentioned implications of the ataxia telangiectasia (AT) test results. First of all, these results still don't discount one extremely rare form of ataxia. Fortunately, she thinks that particular form is not likely for Bertrand. Next, we discussed Dr. Book's involvement. Dr. Book seemed convinced that Bertrand had AT, but now that it has been ruled out she'll have to revisit his situation.

Honestly, dealing with Dr. Book's office and her demeanor toward Bertrand's case has left a sour taste in my mouth. While it could also be that she is simply very busy, from the begining I got the impression that she was uninterested in collaborating on Bertrand's case. He was not her "problem". Her office wouldn't even schedule a follow-up appointment for him, and I had to dog them to speak with even just a nurse for his results.

Apparently, for Bertrand's last series of tests Dr. Book had ordered a screen for some metabolic disorder. No one had bothered to tell us, but that screen came up abnormal! They didn't have enough urine to then run the full follow-up test. Dr. Samson-Fang went ahead and faxed orders for that test to be run along with his regular blood work (AST, ALT, alpha-fetoprotein) today. I strapped a urine bag on him (I have a stash at home) and *ran* out the door to get that done!

We just got back from the Primary Children's Outpatient Laboratory. Bertrand is upstairs happily cooing in his crib. It was rough because they had to stick him twice and he is so strong they need two technicians to hold him. There is definitely nothing wrong with that kid's gross motor capabilities! :) This next round of results should give Dr. Samson-Fang something to talk to Dr. Book about. Hopefully, someone at Dr. Book's office will actually care this time.

Dr. Samson-Fang also mentioned that Dr. Book may want a liver biopsy to determine if it is a metabolic disorder where things are being stored in the liver. This wouldn't show up on an ultrasound or a CT scan. She'll be talking with Dr. Book about next steps, and a possible appointment for Bertrand, once the lab results are in on Monday.

Dr. Samson-Fang will also email Dr. Longo, who is the big metabolic guy here at the University of Utah. He works closely with Dr. Book, but tends to be more responsive--particularly to emails. With a 6 month leadtime, his clinic is even harder to get into than Dr. Book's! However, I am optimistic about dealing with Dr. Longo since he won't have the same preconceptions.

Wrapping up my talk with Dr. Samson-Fang, we discussed Bertrand's April 8th follow-up with Dr. Sakonju, a brain CT scan and a possible lumbar/spinal tap. The issue is the general anesthesia. While a CT scan is easy to order (Dr. Samson-Fang could order it), Bertrand has to get put under because the sedation didn't work last time for the liver CT scan. And, since they'd have to use general anesthesia anyway, that would be a good time to do draw the spinal fluid.

I'll give Dr. Sakonju's office a call next week once his most recent labs are in. If the urine test comes out positive for the metabolic disorder then there is no point to the CT scan or tap. Our search for a diagnosis will essentially be over and Dr. Longo will be our new go-to guy. However, if the test comes back negative, and all the metabolic issues get ruled out, Bertrand becomes a candidate for the University of Utah Department of Neurology's Movement Disorders Clinic.

February 26, 2009

Today was Bertrand's 6 month physical therapy evaluation test. It coincided with his molars coming in. He was an absolute mess all last night and all day long. As a result, Bertrand did even worse on the test than expected. This really guaranteed that he'll qualify for continued therapy, so I guess that is good, right?

We'll be receiving the official results and age equivalencies next Monday when we meet with his case manager, Pat.

I tried to no avail to get in touch with B's pediatrician again today. Hopefully I'll be able to reach her tomorrow, because his February blood work has not yet been drawn. I'll try again early tomorrow to see if we can take Bertrand in later in the day.

I would rather not wait until Monday morning because it would throw off his schedule and put him in a bad mood for his speech therapy. If we can't get him in tomorrow, it would have to wait until March 16th. We need those values in to schedule a visit with Dr. Book.

February 25, 2009

Great news came in today! Bertrand's DNA test came back negative. His condition is NOT ataxia telangiectasia. :) This is a huge relief for us. I will be speaking with Dr. Samson-Fang again tomorrow to discuss next steps.

Since AT was why his gastroenterologist was shrugging off the case, now that it has been ruled out maybe now Dr. Book will show some interest. We'll likely be getting new blood work drawn either Friday or Monday.

February 21, 2009

This morning we visited the Wheeler Historic Farm with "Auntie" Christie Mae who is visiting from Tacoma, WA. Bertrand had a blast watching all the farm animals and enjoyed "off roading" in his stroller! Something tells me there will be many more visits to the farm in the future. :)

February 19, 2009

I can't believe it's almost been 6 months since Bertrand started physical therapy through DDI Vantage. Today his therapist let me know that he needed to be tested next week. Every 6 months they test him and a joint decision is made by both his therapist and case manager to determine Bertrand's continued eligibility for early intervention services. Sadly, the test is merely a formality because B is still very much eligible.

In preparation for the testing next Thursday, Kirsten and I reviewed some of the goals we'd set back in September. While Bertrand has made progress on all of them, he has at best met just one: increased stability while sitting. (Although, his startle reflex makes even that accomplishment tenuous.) This realization was mildly depressing, until I pointed out to Kirsten that his social interaction, which we hadn't stated as a goal, had improved by leaps and bounds.

Bertrand can now make and sustain eye contact, smile, make sounds, and boy can he manipulate. :) Going forward we'll work on improving his tolerance for physical contact, decreasing his alone time, and mitigating his fixations. Our work with Meghan, his speech therapist, will push these efforts as well.

In other related news, Kirsten noted that Bertrand was *much* less jiggly today and *much* more socially responsive. (He was smiling and babbling at Kirsten--a first!) I had noticed this improvement over the past two days as well. Either Bertrand is just step functioning in his development or the switch to whole milk may be helping him. He still gets one or two formula bottles a day, but the rest his bottles have been switched to milk and water.

From a digestive standpoint the milk has helped a lot. Bertrand is now regular and experiences no pain with bowel movements. That alone could make him a happier baby. I'd still be interested in asking his pediatrician what she thinks about the change. Maybe there are extra vitamins in formula he has difficulty with? Asking never hurts.

I've called the Dr. Samson-Fang's office three times this week and left two messages. Hopefully she'll get back to me tomorrow (I'll be calling again) so we can see about the new blood work, starting therapy at Shriners, and now the big milk question.

"His eye contact is much better. His movements have calmed quite a bit & his hands are more relaxed."

February 16, 2009

I spoke with Sabrina Ingram over at the Johns Hopkins DNA Diagnostics Lab today. She said that they received Bertrand's sample on January 15th. Contrary to what the U of U lab had said, the results typically come back between 10 and 12 weeks! Wow! However, she said, due to lower volume they *may* be able to get it back in 8 weeks. So, I'll be checking back in with her on March 12th and 26th.

In other news, we started transitioning B to cow's milk. He loves it. We'd like to get him down to just one formula bottle a day. The vitamins and minerals in formula are good, but they (especially the iron) can have a constipating effect. Since he's been eating very well recently, I think we can accomplish this by the end of the week, if not sooner.

I have been watering down Bertrand's formula and milk due to (a) the dry climate, (b) his constipation, (c) his low activity level and (d) his high liver enzymes. As adorable as his chubby cheeks are, if he could move around like a normal baby, he would've burned them off long ago. The extra weight is also a strain on his liver.

We have a meeting with Bertrand's early intervention case manager, Pat, next week on 03/02/2009. We also have speech therapy with Meghan the same day. Later in March we have an appointment with Dr. Samson-Fang on 03/25/2009 and another feeding clinic (occupational therapy) with Annie Miller, on 03/31/2009. His next neurologist appointment isn't until April.

While I am also touching base with Dr. Samson-Fang today, at our next appointment with her, we will discuss adding physical therapy at the Shriners Children's Hospital. For Spring, we are looking into two new therapy sessions: hydrotherapy (swim class) and hippotherapy (horseback riding).

UPDATE: Due to the President's Day holiday, I was not able to touch base with Dr. Samson-Fang today. I will call her office again tomorrow. Bertrand's blood work for February needs to be drawn and I really want to start the therapy at Shriners.

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Now I Can is a nonprofit 501(c)(3) charitable organization dedicated to helping disabled children reach their greatest potential through intensive physical therapy. Bertrand has benefited greatly from sessions there: Oct 2011, Dec 2011, May 2012, Aug 2012. His next session will be in July 2013.

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